Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Don Mahuran"'
Autor:
Michael B Tropak, Sayuri Yonekawa, Subha Karumuthil-Melethil, Patrick Thompson, Warren Wakarchuk, Steven J Gray, Jagdeep S Walia, Brian L Mark, Don Mahuran
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)
Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA). Of the three Hex isozymes, only HexA can interact with its cofact
Externí odkaz:
https://doaj.org/article/6de70c93a5c54cd896357242c801a7ab
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24951 (2011)
Heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase (N-acetyltransferase, EC 2.3.1.78) is an integral lysosomal membrane protein containing 11 transmembrane domains, encoded by the HGSNAT gene. Deficiencies of N-acetyltransferase lead to mucop
Externí odkaz:
https://doaj.org/article/6330484e8ffc47cd878e57fd6079ff9c
Autor:
Gail Otulakowski, Hui-Fang Bao, Alexandra Garces, Lucky Jain, Douglas C. Eaton, Shephali G. Gandhi, Xi-Juan Chen, Don Mahuran, Michael S. Harris, Bijan Rafii, Hugh O'Brodovich
Publikováno v:
American Journal of Physiology-Lung Cellular and Molecular Physiology. 293:L651-L659
We have previously shown that cardiogenic pulmonary edema fluid (EF) increases Na+ and fluid transport by fetal distal lung epithelia (FDLE) (Rafii B, Gillie DJ, Sulowski C, Hannam V, Cheung T, Otulakowski G, Barker PM and O'Brodovich H. J Physiol 54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::566761974fd82950842afd9c8f4296af
https://doi.org/10.1152/ajplung.00464.2006
https://doi.org/10.1152/ajplung.00464.2006
Publikováno v:
Biochemistry. 39:6219-6227
Tay-Sachs or Sandhoff disease results from a deficiency of either the alpha- or the beta-subunits of beta-hexosaminidase A, respectively. These evolutionarily related subunits have been grouped with the "Family 20" glycosidases. Molecular modeling of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9eca3334a51eef0062f5a80ec5c68e
https://doi.org/10.1021/bi992464j
https://doi.org/10.1021/bi992464j
Publikováno v:
Molecular Genetics and Metabolism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8baa80590b4ee547634a763422a256c
https://doi.org/10.1016/j.ymgme.2007.08.096
https://doi.org/10.1016/j.ymgme.2007.08.096
The ability to use in vitro mutagenesis and transfection techniques to generate stable cell lines that highly express a mutant protein associated with a metabolic disease has been an important technique in linking genotype to clinical phenotype (Ozka
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d014e38b83ad05e973a270be33da4f70
http://hdl.handle.net/11655/16459
http://hdl.handle.net/11655/16459
Human beta-hexosaminidase A (alpha beta) and B (beta beta) are composed of subunits (alpha and beta) that are 60% identical and have been grouped with other evolutionarily related glycosidases into "Family 20". The three-dimensional structure of only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5dcb29fa95c851b7e3d2385892549e7
https://europepmc.org/articles/PMC2910085/
https://europepmc.org/articles/PMC2910085/
Autor:
Richard Bagshaw, Xiaolian Fan, Huiwen Zhang, Michael B. Tropak, Don Mahuran, Sunqu Zhang, John W. Callahan
Publikováno v:
Molecular Genetics and Metabolism. 92:12-13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6066e222c6b83dfa8abf414b611cafa
https://doi.org/10.1016/j.ymgme.2007.08.012
https://doi.org/10.1016/j.ymgme.2007.08.012
Autor:
Joe Clarke, Don Mahuran, Swati Sathe, Edwin Kolodny, Brigitte Rigat, Julian Raiman, Michael Tropak
Publikováno v:
Molecular Genetics and Metabolism. 102:S12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::216eea3f47af4d5c15e7a70c5171a4e0
https://doi.org/10.1016/j.ymgme.2010.11.040
https://doi.org/10.1016/j.ymgme.2010.11.040
Autor:
Brigitte Rigat, Don Mahuran
Publikováno v:
Molecular Genetics and Metabolism. 96:S30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b9a002dc483297c654e8319717de439
https://doi.org/10.1016/j.ymgme.2008.11.084
https://doi.org/10.1016/j.ymgme.2008.11.084